Texas family shines light on rare disease awareness

AUSTIN, Texas - A Texas family is raising awareness about help available for anyone dealing with a rare disease.

Family's years-long search for answers

The backstory:

The Rogers family faced a nearly three-year journey to diagnose Lottie, who exhibited developmental delays from a young age. Despite normal test results, her mother, Samantha Rogers, a nurse, knew something was amiss.

Lottie's diagnosis revealed a mutation in the CERT1 gene (ceramide transporter 1), a condition with limited information available, leading to more questions for the family.

Timeline:

It took years to find a diagnosis.

• By 2 months old, Lottie wasn't gaining weight.
• At only 4-6 months old, Lottie's family noticed she wasn't able to do typical things of a baby that age.
• By 1 year old, Lottie wasn't trying to scoot or crawl.
• By 2 years old, Lottie wasn't "babbling" and was non-verbal.
• After years of uncertainty, the Rogers found a genetic specialist who suggested gene and exome testing.
• It took 2.5 years to find out why Lottie was falling behind in developmental milestones.
• Lottie is now eight years old.

What they're saying:

It was really tough for the family at first, because the original tests kept coming back normal.

"Unfortunately, it brought more concerns, because I am a nurse as that is my background and knowing that there is a normal and there's within normal limits, and she's not falling in that, regardless of what the numbers are showing me. And as a nurse, that's the first thing you do, is assessment - what is happening here, and I'm comparing it to normal, even though the numbers look normal, if the patient isn't well, more needs to be done," explains Lottie's mother, Samantha.

"Our physician ordered the GeneDx, whole exome sequencing, which was covered by our insurance. So, it's huge to be able to get that test to something like you mentioned that historically, it's a very expensive test, and it's now becoming much more available to the population. The geneticist said, there's not much we know about this condition. I'm sorry you go home and love your daughter," says Wesley Rogers, Lottie's dad.

They created a foundation to help others going through something similar.

"We created Lottie's Light Foundation to be this beacon for our community because even now, when you google CERT1, you're going to struggle to find information," says Wesley.

Building awareness for rare diseases

Why you should care:

Rare diseases affect millions, and awareness can lead to better diagnosis and treatment options, impacting countless lives.

By the numbers:

Thirty million people are affected by rare diseases, spanning 7,000 different conditions.

Big picture view:

The Rogers family's journey highlights the challenges faced by many in obtaining a diagnosis and the importance of genetic testing in identifying rare conditions.

What's next:

The Rogers family is collaborating with researchers to find a cure and has established a foundation called Lottie's Light Foundation to support others dealing with rare diseases.

What you can do:

Support rare disease research and foundations like Lottie's Light to help families access resources and information.

Dig deeper:

For more information, visit https://lottieslight.org and https://www.genedx.com